Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.

ABSTRACT: Plasmodium vivax malaria remains a significant global health challenge, complicated by the parasite's ability to form dormant liver stages (hypnozoites) that cause relapses. Radical cure of P. vivax malaria requires administration of a hypnozoitocidal drug, such as primaquine or tafenoquine. However, these drugs can cause severe haemolysis in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD deficiency is caused by more than 230 different variants at the gene level that confer different degrees of deficiency phenotypically. Understanding the distribution of different G6PD variants in affected populations is essential to inform safer antimalarial treatment strategies. This study aimed to develop a cost-effective sequencing assay targeting key regions o

SUBMITTER: Tacoli C 

PROVIDER: S-EPMC12262242 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature